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GTR Home > Tests > X-Linked Myotubular Myopathy , Deletions-Duplications (MLPA) MTM1 Gene

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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Sensitivity > 98% Specificity > 98% with the maximal possible technical accuracy (> 99.8%)

Citations

Not provided

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
No

FDA Regulatory Clearances of the Test

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Not provided

Suggested reading

  • Frase, 2016
    Dream On: The Pursuit to Cure Myotubular Myopathy Born out of a Mother's Vision

Practice guidelines

  • EuroGenetest, 2012
    Clinical utility gene card for: Centronuclear and myotubular myopathies.

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